ClinVar Miner

List of variants in gene RAD51C reported as pathogenic for Fanconi anemia complementation group O

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 146
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349 0.00004
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter) rs730881939 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997 0.00002
NM_058216.3(RAD51C):c.837+1G>A rs760235677 0.00002
NM_058216.3(RAD51C):c.404+2T>C rs730881931 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_058216.3(RAD51C):c.905-2A>C rs779582317 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_058216.3(RAD51C):c.905-2del rs876658652 0.00001
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) rs876659874 0.00001
NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter) rs587781287 0.00001
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter) rs587782528 0.00001
NC_000017.10:g.(?_56769920)_(56811662_?)del
NC_000017.10:g.(?_56769986)_(56774230_?)del
NC_000017.10:g.(?_56769999)_(56787357_?)del
NC_000017.10:g.(?_56772282)_(56772560_?)del
NC_000017.10:g.(?_56774044)_(56774230_?)del
NC_000017.10:g.(?_56780547)_(56787361_?)del
NC_000017.10:g.(?_56780551)_(56787357_?)del
NC_000017.10:g.(?_56787200)_(56787371_?)del
NC_000017.10:g.(?_56798097)_(56798183_?)del
NC_000017.10:g.(?_56798097)_(56801482_?)del
NC_000017.11:g.(?_58692625)_(58710000_?)del
NC_000017.11:g.(?_58692625)_(58734222_?)del
NC_000017.11:g.(?_58692634)_(58703339_?)del
NC_000017.11:g.(?_58692634)_(58734232_?)del
NC_000017.11:g.(?_58696687)_(58696865_?)del
NC_000017.11:g.(?_58703186)_(58734222_?)del
NC_000017.11:g.(?_58709849)_(58734222_?)del
NC_000017.11:g.(?_58709849)_(58734232_?)del
NC_000017.11:g.(?_58720736)_(58734222_?)del
NC_000017.11:g.(?_58720736)_(58734232_?)del
NC_000017.11:g.(?_58720736)_(58734352_?)del
NC_000017.11:g.(?_58720740)_(58720818_?)del
NC_000017.11:g.(?_58720740)_(58724106_?)del
NC_000017.11:g.(?_58720746)_(58734342_?)del
NC_000017.11:g.(?_58732474)_(58734222_?)del
NC_000017.11:g.(?_58732474)_(58734232_?)del
NM_058216.1(RAD51C):c.(?_-1)_(*1_?)del
NM_058216.1(RAD51C):c.966-?_1026+?del
NM_058216.2(RAD51C):c.706-?_*120del
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.109del (p.Glu37fs)
NM_058216.3(RAD51C):c.133G>T (p.Glu45Ter) rs1598449660
NM_058216.3(RAD51C):c.145+1G>A rs757128712
NM_058216.3(RAD51C):c.145+1G>T rs757128712
NM_058216.3(RAD51C):c.158del (p.Ser53fs) rs587782533
NM_058216.3(RAD51C):c.160A>T (p.Lys54Ter) rs2047940709
NM_058216.3(RAD51C):c.168del (p.Ala57fs) rs2143717943
NM_058216.3(RAD51C):c.181_182del (p.Leu61fs) rs786203945
NM_058216.3(RAD51C):c.186_187del (p.Gln62fs) rs587782170
NM_058216.3(RAD51C):c.199G>T (p.Glu67Ter) rs1567785872
NM_058216.3(RAD51C):c.204T>A (p.Cys68Ter) rs1567785888
NM_058216.3(RAD51C):c.209_210del (p.Thr70fs)
NM_058216.3(RAD51C):c.216_220del (p.Pro73fs) rs786202563
NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs) rs1598455598
NM_058216.3(RAD51C):c.225T>G (p.Tyr75Ter) rs1555593553
NM_058216.3(RAD51C):c.245_246insGATGTACA (p.His82fs) rs2143721294
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter) rs1555593616
NM_058216.3(RAD51C):c.274G>T (p.Glu92Ter) rs765304898
NM_058216.3(RAD51C):c.277C>T (p.Gln93Ter) rs1555593670
NM_058216.3(RAD51C):c.312T>A (p.Cys104Ter) rs1555593715
NM_058216.3(RAD51C):c.313_314insA (p.Ser105fs) rs2047953067
NM_058216.3(RAD51C):c.31C>T (p.Gln11Ter) rs1567782755
NM_058216.3(RAD51C):c.338del (p.Gly113fs)
NM_058216.3(RAD51C):c.353_356del (p.Met118fs)
NM_058216.3(RAD51C):c.358dup (p.Thr120fs) rs2143725868
NM_058216.3(RAD51C):c.363_370del (p.Glu122fs)
NM_058216.3(RAD51C):c.379_380insG (p.Pro127fs) rs2047958236
NM_058216.3(RAD51C):c.37_38insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATGCAGCGGG (p.Asp13fs)
NM_058216.3(RAD51C):c.394del (p.Thr132fs) rs730881940
NM_058216.3(RAD51C):c.394dup (p.Thr132fs) rs730881940
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter) rs387907159
NM_058216.3(RAD51C):c.401T>G (p.Leu134Ter) rs1233795152
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr) rs767796996
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser) rs767796996
NM_058216.3(RAD51C):c.405-1G>C rs587782036
NM_058216.3(RAD51C):c.409C>T (p.Gln137Ter) rs2048021234
NM_058216.3(RAD51C):c.444del (p.Phe148fs) rs1555594617
NM_058216.3(RAD51C):c.444dup (p.Gly149fs) rs1555594617
NM_058216.3(RAD51C):c.447_448delinsT (p.Gly150fs) rs1598460178
NM_058216.3(RAD51C):c.472dup (p.Ile158fs) rs2143746162
NM_058216.3(RAD51C):c.478del (p.Thr160fs)
NM_058216.3(RAD51C):c.484G>T (p.Gly162Ter)
NM_058216.3(RAD51C):c.485del (p.Gly162fs) rs2143746632
NM_058216.3(RAD51C):c.491_492del (p.Phe164fs) rs2143746939
NM_058216.3(RAD51C):c.496del (p.Val166fs) rs2143747219
NM_058216.3(RAD51C):c.498del (p.Asp167fs) rs746993675
NM_058216.3(RAD51C):c.501_502dup (p.Arg168fs) rs587782699
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter) rs587781490
NM_058216.3(RAD51C):c.502dup (p.Arg168fs) rs2143747561
NM_058216.3(RAD51C):c.508del (p.Val169_Val170insTer)
NM_058216.3(RAD51C):c.50del (p.Phe17fs) rs1555591851
NM_058216.3(RAD51C):c.519dup (p.Thr174fs) rs1598460710
NM_058216.3(RAD51C):c.525dup (p.Cys176fs) rs768793789
NM_058216.3(RAD51C):c.52_53del (p.Pro18fs) rs1598448896
NM_058216.3(RAD51C):c.535del (p.His179fs) rs1555594864
NM_058216.3(RAD51C):c.53del (p.Pro18fs)
NM_058216.3(RAD51C):c.54del (p.Leu19fs)
NM_058216.3(RAD51C):c.556A>T (p.Lys186Ter) rs1363104728
NM_058216.3(RAD51C):c.561_562del (p.His187fs) rs1057517812
NM_058216.3(RAD51C):c.562_563del (p.Lys188fs) rs2143749861
NM_058216.3(RAD51C):c.562_565del (p.Lys188fs) rs1555594912
NM_058216.3(RAD51C):c.565G>T (p.Gly189Ter) rs1330937621
NM_058216.3(RAD51C):c.572-1G>C rs1413872299
NM_058216.3(RAD51C):c.589G>T (p.Glu197Ter) rs1555597094
NM_058216.3(RAD51C):c.68_72dup (p.Val25fs) rs2047807048
NM_058216.3(RAD51C):c.706-1G>A rs1555599090
NM_058216.3(RAD51C):c.706-2A>C rs587780259
NM_058216.3(RAD51C):c.72_73insAT (p.Val25fs) rs775482687
NM_058216.3(RAD51C):c.732del (p.Ile244fs) rs1060502601
NM_058216.3(RAD51C):c.738del (p.Pro247fs)
NM_058216.3(RAD51C):c.73delinsTTC (p.Val25fs) rs1567782936
NM_058216.3(RAD51C):c.75dup (p.Lys26fs)
NM_058216.3(RAD51C):c.784_787dup (p.Asn263fs)
NM_058216.3(RAD51C):c.785T>A (p.Leu262Ter)
NM_058216.3(RAD51C):c.785_786insTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCGTACTCGGTTATT (p.Leu262delinsPhePhePhePhePhePheXaaXaaXaaXaaSerProPheTer) rs2143852568
NM_058216.3(RAD51C):c.795del (p.Ala266fs) rs2143853617
NM_058216.3(RAD51C):c.799C>T (p.Gln267Ter)
NM_058216.3(RAD51C):c.802C>T (p.Gln268Ter) rs1567799818
NM_058216.3(RAD51C):c.82dup (p.Val28fs) rs2143677258
NM_058216.3(RAD51C):c.837+1G>C rs760235677
NM_058216.3(RAD51C):c.837+1G>T rs760235677
NM_058216.3(RAD51C):c.837+4_837+7del rs727503760
NM_058216.3(RAD51C):c.837+5G>A
NM_058216.3(RAD51C):c.83dup (p.Ser29fs)
NM_058216.3(RAD51C):c.851_854del (p.Asn284fs) rs1060502605
NM_058216.3(RAD51C):c.860del (p.Thr287fs) rs2143930383
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs) rs1555602141
NM_058216.3(RAD51C):c.905-1G>A rs2143961181
NM_058216.3(RAD51C):c.905-2A>G rs779582317
NM_058216.3(RAD51C):c.905-3_906del rs730881941
NM_058216.3(RAD51C):c.907G>T (p.Glu303Ter) rs2143961266
NM_058216.3(RAD51C):c.910del (p.Ser304fs) rs1555603011
NM_058216.3(RAD51C):c.915G>A (p.Trp305Ter) rs2143961567
NM_058216.3(RAD51C):c.917del (p.Gly306fs) rs2143961536
NM_058216.3(RAD51C):c.93del (p.Phe32fs) rs730881942
NM_058216.3(RAD51C):c.961C>T (p.Gln321Ter) rs2143963184
NM_058216.3(RAD51C):c.965+1G>A rs730881933
NM_058216.3(RAD51C):c.965+5G>A rs774586107
NM_058216.3(RAD51C):c.97_98del (p.Gln33fs) rs587780840
NM_058216.3(RAD51C):c.981C>A (p.Tyr327Ter) rs2144044910
NM_058216.3(RAD51C):c.981C>G (p.Tyr327Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.